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A new β-thalassemia deletion mutation [codon 36 (-C)] observed in a Chinese woman

Hailong Huang1, Liangpu Xu, Na Lin

  • 1Center of Prenatal Diagnosis, Maternal and Child Health Care Hospital of Fujian Province, Fuzhou, Fujian, People's Republic of China.

Hemoglobin
|November 17, 2010
PubMed

In this study we present the first report of the detection of a new β-thalassemia (β-thal) mutation at codon 36 (-C) in the Chinese population. This frameshift mutation generates a TGA stop codon at position 60, resulting in a thalassemia phenotype. This is the first example of a premature stop codon at position 60 because of codon 36. The characterization of uncommon mutations is useful for the screening of β-thal carriers, genetic counseling and prenatal diagnosis.

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